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Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation.

Recio, Maria J; Dominguez-Pinilla, Nerea; Perrig, Melina Soledad; Rodriguez Vigil-Iturrate, Carmen; Salmón-Rodriguez, Nerea; Martinez Faci, Cristina; Castro-Panete, María J; Blas-Espada, Javier; López-Nevado, Marta; Ruiz-Garcia, Raquel; Chaparro-García, Rebeca; Allende, Luis M; Gonzalez-Granado, Luis Ignacio.

Front Immunol ; 9: 2959, 2018.

Article in English | MEDLINE | ID: mdl-30666249

ABSTRACT

Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we describe two unrelated cases with the same non-sense mutation in the NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect.

Subject(s)

DNA Repair Enzymes/deficiency , DNA Repair Enzymes/genetics , DNA-Binding Proteins/deficiency , DNA-Binding Proteins/genetics , Phenotype , Rare Diseases/genetics , Severe Combined Immunodeficiency/genetics , Antibodies/blood , B-Lymphocytes , Child , Codon, Nonsense , DNA Breaks, Double-Stranded , DNA End-Joining Repair/genetics , Fibroblasts/radiation effects , Follow-Up Studies , Hematopoietic Stem Cell Transplantation , Homozygote , Humans , Infant , Intellectual Disability/diagnosis , Lymphopenia/diagnosis , Microcephaly/diagnosis , Pedigree , Radiation Tolerance , Rare Diseases/diagnosis , Rare Diseases/pathology , Rare Diseases/therapy , Severe Combined Immunodeficiency/diagnosis , Severe Combined Immunodeficiency/pathology , Severe Combined Immunodeficiency/therapy , T-Lymphocytes , Treatment Outcome

ABSTRACT

Subject(s)

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